Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/44123
Type: Artigo de periódico
Title: Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population
Author: Luz, Julio Da
Ávila, Amalia
Icasuriaga, Sandra
Gongóra, María
Castillo, Luis
Serrón, Alejandra
Kimura, Elza Miyuki
Costa, Fernando Ferreira
Sans, Mónica
Sonati, Maria de Fátima
Abstract: Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 &#946;-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% &#946;-thalassemia) had a mutation in the HBB gene and 3.3% had &#945;-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was found exclusively in individuals with declared African ancestry and had a carrier frequency of 2.2%. The frequency of &#945;-thalassemia carriers in outpatients of European and African ancestry was 1.2% and 6.5%, respectively. In contrast, the frequency of &#945;-thalassemia carriers in patients with microcytic anemia was 25.8%, significantly higher (p < 0.01) than that observed in the sample as a whole and in Afro-descendants and Euro-descendants. Significant differences were observed in the hematological parameters between individuals with thalassemia genotypes and those with a normal genotype. These results indicate that hemoglobinopathies are a relevant health problem in Uruguay.
Subject: alpha-globin
beta-globin
hemoglobinopathies
Uruguayan population
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572013005000027
Address: http://dx.doi.org/10.1590/S1415-47572013005000027
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003
Date Issue: 1-Jan-2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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